Canonical Allele Identifier: PA916037484
Gene: PAH HGNC NCBI
ClinVar Allele:
130974
ClinVar RCV:
RCV000111461
ClinVar Variation:
125436
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Arg169Cys
CA267693
NM_001354304.2:c.505C>T